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GrowthhormonetherapyinchildwithRussell Silver
GrowthhormonetherapyinchildwithRussell Silver
GrowthhormonetherapyinchildwithRussell Silver
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Abstract
Russell-Silver syndrome (SRS) is a genetic disorder with unknown etiology; however, some clinical manifestations and diagnostic
criteria have been found to diagnose SRS. Here, we report on an 8-year-old girl with short stature and failure to gain weight, who
started growth hormone (GH) therapy with good response; she presented with distinctive facial features, bilateral clinodactyly of
the fifth finger, and syndactyly of the 2nd and 3rd toes; there are hypo pigmented spots on her back and delay bone age.
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International Journal of Medical and Health Research
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International Journal of Medical and Health Research
Table 3: Clinical features of Silver–Russell syndrome of Silver–Russell syndrome: first international consensus
Clinical feature Frequency %
statement. Nat Publ Gr [Internet]. 2016; 13(2):105-24.
Triangular face 94% 12. Al-Harbi T, Al-Sarawi A, Binfalah M, Dermime S.
Fifth finger clinodactyly 75% Silver-Russell Syndrome: A Case Report. Hematol Oncol
Shoulder dimples 66% Stem Cell Ther. 2014; 7(3):116-9.
Micrognathia 62% 13. Butt M, Khan SN, Ashfaq MW, Bukhari MB, Khan IM.
Low muscle mass 56% Russell Silver Syndrome. J Islam Med Dent Coll. 2014;
Excessive sweating 54% 3(2):87-88.
Low-set and/or posteriorly rotated ears 49% 14. Azcona C, Stanhope R. Absence of catch-down growth in
Down-turned mouth 48% Russell-Silver syndrome after short-term growth hormone
High pitched or squeaky voice 45% treatment. Horm Res. 1999; 51(1):47-9.
Prominent heels 44% 15. Toumba M, Albanese A, Azcona C, Stanhope R. Effect of
Delayed closure of fontanelle 43% long-term growth hormone treatment on final height of
Male genital abnormalities 40% children with Russell-Silver syndrome. Horm Res
Speech delay 40% Paediatr. 2010; 74(3):212-7.
Irregular or crowded teeth 37%
Motor delay 37%
Syndactyly of toes 30%
Hypoglycaemia 22%
Scoliosis and/or kyphosis 18%
References
1. Shohela Akhter, Mohammad Imnul Islam, AfrzAl
Mamun SAR. Silver-Russell syndrome- A rare case
report. 2013; 5-7.
2. Saal HM, Pagon RA, Pepin MG. Reevaluation of Russell-
Silver syndrome. J Pediatr. 1985; 107(5):733-7.
3. Nakabayashi K, Fernandez BA, Teshima I, Shuman C,
Proud VK, Curry CJ, et al. Molecular Genetic Studies of
Human Chromosome 7 in Russell–Silver Syndrome.
Genomics [Internet]. 2002; 79(2):186-96.
4. Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau
A, Perin L, et al. Brief report: 11p15 imprinting center
region 1 loss of methylation is a common and specific
cause of typical Russell-Silver syndrome: Clinical scoring
system and epigenetic-phenotypic correlations. J Clin
Endocrinol Metab. 2007; 92(8):3148-54.
5. Kumar S, Jain A, Agrawal S, Chandran S. Silver-Russell
Syndrome: A Case Report. Cases J [Internet]. 2008;
1(1):304.
6. Mascarenhas JV, Ayyar VS. Russell Silver syndrome: a
perspective on growth and the influence of growth
hormone therapy. Indian J Endocrinol Metab [Internet].
2012; 16(5):840-2.
7. Stanhope R, Albanese A, Azcona C. Growth hormone
treatment of Russell-Silver syndrome. Horm Res
[Internet]. 1998; 49(SUPPL. 2):37-40.
8. Bing-Ping Qiu, Chang-Hong Shi Tengzhou C. Silver-
Russell Syndrome: A Case Report. World J Pediatr
[Internet]. 2007; 1(1):304.
9. Christoforidis A, Maniadaki I, Stanhope R. Managing
children with Russell-Silver syndrome: more than just
growth hormone treatment? J Pediatr Endocrinol Metab.
2005; 652:651-2.
10. Abraham E, Altiok H, Lubicky JP, Diff M.
Musculoskeletal Manifestations of Russell-Silver
Syndrome. 2004; 24(5):552-64.
11. Wakeling EL, Brioude F, Lokulo-sodipe O, Connell
SMO, Salem J, Bliek J, et al. Diagnosis and management
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